Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his face and upper extremities upon sun exposure. On examination, there was minimal face erythema and calluses over the knuckles. Laboratory workup demonstrated substantially increased protoporphyrin (over 10 times the upper limit of normal) along with elevated liver enzyme levels. Liver biopsy confirmed stage 4 cirrhosis. Our patient’s cutaneous manifestations were the primary complaint that led to the diagnosis of his terminal hepatic illness. We recommend screening for erythropoietic protoporphyria in patients who present with a life-long history of non-blistering, burning and itching of the skin, which begins immediately upon sun exposure.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.